HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044651G>A , CM000672.2:g.114044651G>A | GRCh38 |
NC_000010.10:g.115804410G>A , CM000672.1:g.115804410G>A | GRCh37 |
NC_000010.9:g.115794400G>A | NCBI36 |
NG_012187.1:g.5605G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.519G>A MANE Select | ENSP00000358301.2:p.Ala173= | |
ENST00000369295.3:c.519G>A | ENSP00000358301.2:p.Ala173= | |
NM_000684.2:c.519G>A | NP_000675.1:p.Ala173= | |
NM_000684.3:c.519G>A MANE Select | NP_000675.1:p.Ala173= |